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UK Biobank whole cohort directly genotyped and imputed data (~500,000 participants)

Genotype data is available for all 500,000 participants in the UK Biobank cohort. Genotyping has been performed using the Affymetrix UK BiLEVE Axiom array on an initial 50,000 participants and the remaining 450,000 participants have been genotyped using the Affymetrix UK Biobank Axiom® array. The two arrays are extremely similar (with over 95% common content).Quality control and imputation (to over 90 million SNPs, indels and large structural variants) has been performed by a collaborative group headed by the Wellcome Trust Centre for Human Genetics.The following data are available:* A clean set of QC’ed genotype calls* Confidence values that a genotype call is correct* Intensity data to generate cluster plots* Extensive QC information regarding SNPs and samples including SNP metrics, batch effects, population structure and relatedness* Imputed dataFor further information, please refer to the UK Biobank website

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID Description Technology Samples
EGAD00010001474 1
EGAD00010001497 Affymetrix 485000
Publications Citations
Genetic predisposition to uterine leiomyoma is determined by loci for genitourinary development and genome stability.
Elife 7: 2018 e37110
A Fast and Simple Method for Detecting Identity-by-Descent Segments in Large-Scale Data.
Am J Hum Genet 106: 2020 426-437
Population-Specific Recombination Maps from Segments of Identity by Descent.
Am J Hum Genet 107: 2020 137-148
Cancer PRSweb: An Online Repository with Polygenic Risk Scores for Major Cancer Traits and Their Evaluation in Two Independent Biobanks.
Am J Hum Genet 107: 2020 815-836
On cross-ancestry cancer polygenic risk scores.
PLoS Genet 17: 2021 e1009670
Genotype error biases trio-based estimates of haplotype phase accuracy.
Am J Hum Genet 109: 2022 1016-1025
Uncovering associations between pre-existing conditions and COVID-19 Severity: A polygenic risk score approach across three large biobanks.
PLoS Genet 19: 2023 e1010907